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CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Nat. Commun. 8:744 (2017)
There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 cohorts. The study reveals five CNV associations at 1q21.1, 3q29, 7q11.23, 11p14.2, and 18q21.32 and confirms two known loci at 16p11.2 and 22q11.21, implicating at least one anthropometric trait. The discovered CNVs are recurrent and rare (0.01-0.2%), with large effects on height ( > 2.4 cm), weight ( > 5 kg), and body mass index (BMI) ( > 3.5 kg/m 2 ). Burden analysis shows a 0.41 cm decrease in height, a 0.003 increase in waist-to-hip ratio and increase in BMI by 0.14 kg/m 2 for each Mb of total deletion burden (P = 2.5 × 10 -10 , 6.0 × 10 -5 , and 2.9 × 10 -3 ). Our study provides evidence that the same genes (e.g., MC4R, FIBIN, and FMO5) harbor both common and rare variants affecting body size and that anthropometric traits share genetic loci with developmental and psychiatric disorders.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Body-mass Index; Williams-beuren-syndrome; Genome-wide Association; Deletion Syndrome; Developmental Delay; Human Height; Variants; Obesity; Snp; Microduplication
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Zeitschrift Nature Communications
Quellenangaben Band: 8, Heft: 1, Seiten: , Artikelnummer: 744 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Begutachtungsstatus peer-reviewed